Navigating the pathway to diagnosis and care for individuals with Spectrum Disorder

Nicholas Fears, Ph.D.; Karolina Kata, M.B.S., OMS-IV; Shannon Chang, OMS-III; Monica Nguyen, OMS-II; Abhinaya Ganesh, OMS-III; & Haylie Miller, Ph.D.

July 20, 2019 Our Mission at UNTHSC:

– Partner with stakeholders in the ASD community – Provide resources for individuals/families in need – Study sensorimotor function in ASD – Understand co-occurrence of ASD and other developmental disorders/conditions What to Expect Today:

– Multiple short presentations that are all related – Some research data, some clinical evaluation – Lots of information in a short period of time – Many passionate, enthusiastic young scientists! ASD Diagnostic Criteria

Social Communication Restricted, Repetitive Patterns & Social Interaction of Behavior or Interests

Deficits in social or emotional Stereotyped motor behaviors reciprocity (hand flapping/rocking)

Deficits in nonverbal communicative Insistence on sameness/routines behaviors (gestures/expressions) + Restricted interests abnormal in Deficits in developing, maintaining, intensity or focus & understanding relationships across multiple contexts Hyper- or hypo-reactivity to sensory (imaginative play/friendships) input or unusual sensory interest

AND… Symptoms present in early development, cause clinically significant impairment, and are not better explained by or global developmental delay. Redefining Disorder (ASD):

– Complex set of neurodevelopmental symptoms – Not just social or psychological – “whole body” – Not just a two-dimensional spectrum (low/high) Low to High Functioning

Symptom domains present or absent

Degree to which symptom domains are affected Low to High Functioning

SymptomSymptom domains domains present present or absent or absent

Degree to which symptom domains are affected Low to High Functioning

Symptom domains present or absent

Degree to which domains are affected Low to High Functioning

Symptom domains present or absent

Degree to which symptom domains are affected

How components of each domain are affected Whole-Body Disorder

• Will require a culture shift at all levels!

– Community surveillance – Provider assessment and diagnosis – Intervention planning and outcome evaluation – Scaffolding to support social, healthcare, daily living, employment contexts that will all be affected by non- core symptoms of ASD “Autism Pure” vs. “Autism Plus”

Nicholas Fears, Ph.D. Autism is Autism Plus

• Nearly all individuals with Autism have Autism Plus

– >95% of individuals with Autism have one or more co-occurring conditions (Soke et al., 2018, JADD)

– Majority of individuals have 4 or more co-occurring conditions (Soke et al., 2018, JADD) Topple®, Pressman Games Common co-occurring conditions

• Sleep issues • GI disturbance • Motor Problems • Seizure disorders • Metabolic disorders • Cognitive Differences • Anxiety, depression, • Immune system • Sensory Sensitivity loneliness, dysfunction aggression • Growth Differences

Pic 1 Pic 2 Pic 3

Heather Weston CDC Impact of co-occurring conditions

• Impacts both patients’ and families’ quality of life (Moyal et al., 2014, Paediatr Drugs)

• Parents experience considerable problems: – combining daily activities with care – have financial problems – suffered from depressive mood (Hoefman et al., 2015, JADD) Topple®, Pressman Games ASD and DCD

• Recent changes to diagnostic criteria allow for ASD to be co-diagnosed with Developmental Coordination Disorder (DCD) (DSM-V, 2013, APA) • 2-7% of children • Problems with development of motor coordination • Delays in achieving motor Picture of happy kid milestones, poor balance, coordination, and handwriting skills

– This allows for ASD only, DCD only, or ASD+DCD.

– Diagnoses of ASD and DCD are inconsistent, ranging from potentially 1% to 25% (Kata et al., 2019; Kopp et al., 2010) ASD and DCD

• How do children with ASD compare to children with DCD on parent reports and standardized assessments of movement? – Developmental Motor Milestones & Developmental Coordination Disorder Questionnaire (DCD-Q) – Movement Assessment Battery for Children (MABC-2) – Beery Test of Visual-Motor Integration (Beery VMI)

Pic of Motor Pic of MABC-2 Pic of Beery milestones

Johnson & Blasco, 1997, Pediatr Rev. Pearson ASD and DCD

• Discrepancies in parent reports

– 76% of children with ASD met developmental motor milestones according to parent reports

Pic of motor milestones – 92% of children with ASD met criteria for DCD via parent report on the DCD-Q

CDC ASD and DCD

• Similarities in standardized assessments

– 77.88 was the mean standard score for children with ASD on the Beery VMI

– 97.5% of children with ASD met DCD criteria (below 16th percentile) on the MABC-2 DCD likely at: 5-7:11yr, 8-9:11yr, 10+yr

Below 16th percentile DCD Likely

Haylie L. Miller, Ph.D., Gabriela M. Sherrod, B.S., Joyce E. Mauk, M.D., Nicholas E. Fears, Ph.D., & Priscila M. Caçola, Ph.D. Impact of untreated motor deficits

• Mental health may be negatively impacted Pic of isolated kid

• Children may be more socially isolated Getty Images – Teachers’ report children with DCD having fewer friends (Piek et al., 2005)

• Children may have lower self-esteem – Self-esteem may be lower due to fewer social ic of kids playing contacts and friendships (Poulsen et al., 2008)

CDC Impact of untreated motor deficits

• Physical health may also be negatively impacted Pic of sedentary kid • Children may engage in less physical activity Christopher Furlong. Getty Images – (Cairney et al., 2011; Hamm & Yun, 2017)

• Placing them at higher risk for obesity, chronic health conditions, and reduced quality of life Pic of active kid – (Hill et al., 2015)

CDC Diagnosis & Treatment

• Important complete review of ALL health systems by primary care physician to recognize ASD symptoms (Ellerbeck et al., 2015, Prim Care.)

– Treatment options: • physical therapy

• gastroenterology Moriarty Physical Therapy • cognitive behavioral therapy • (sleep disturbances) • speech therapy (Vargason et al., 2019, Autism Res., Carmassi et al., 2019, Front Psychiatry, Gabis, Defense-Netrval and Fernandes, 2016, Codas) Summary of Results

• ASD is a complex condition with a wide range of variability in symptom profiles.

– Some symptoms might be well-known (social communication) or easily noticeable (sleep and GI issues)

– Motor problems might be “overshadowed” by other symptoms (McLeod, et al., 2017)

• We need to assess for potential motor difficulties in ASD

• We need to include the appropriate health professionals (OTs, PTs etc.) for developing motor abilities in ASD. A multi-center retrospective investigation of diagnostic, referral, and early management pathways for pediatric patients with Autism Spectrum Disorder (ASD) and Developmental Coordination Disorder (DCD)

Karolina Kata, M.B.S., OMS-IV1, Shannon Chang, OMS-III1, Abhinaya Ganesh, OMS-III1, Monica Nguyen, OMS-III1, Joyce E. Mauk, M.D.2, W. Paul Bowman, M.D.1,2, Laurie Bailey, Ph.D.2, Tyler Hamby, Ph.D.2, & Haylie L. Miller, Ph.D.1 1UNT Health Science Center, Fort Worth, TX, USA, 2Cook Children’s Medical Center/Child Study Center, Fort Worth, TX, USA Diagnostic Pathways for ASD with/without Co-Occurring Conditions

Karolina Kata, M.B.S., OMS-IV Neurodevelopmental Disorders

• Presence of motor symptoms in ASD: (Morris et al., 2015; Ozonoff et al., 2008) • Abnormalities of: gait and balance, postural instability, and incoordination (Miller et al., 2019) • Findings are widely documented with standardized motor function tests (Ozonoff et al., 2008)

• Current diagnostic practice does not include a systematic evaluation of motor coordination in ASD. (Caçola et al., 2017)

• DCD and ASD can be diagnosed as co-occurring (ASD+DCD). (American Psychological Association, 2013) Motor Symptoms

• Motor symptoms in ASD: • Motor difficulties significant enough to warrant a diagnosis of DCD. (Caçola et al., 2017; Miller et al. 2019) • The treated prevalence remains low and motor function is often not prioritized in treatment planning. (McLeod et al., 2017) • Early intervention and improved outcomes. (Blauw-Hospers & Hadders-Algra, 2005) Diagnostic Pathways

• Evidence-based medicine: • No clear pattern to how a patient arrives at final diagnosis. • There are few published studies examining the details of pathways used for diagnosis, referral, and early management of pediatric patients with ASD, DCD, and ASD+DCD. (Caçola et al., 2017)

• Reaching the diagnosis: • Variability in the chain of clinical events leading to diagnoses of ASD, DCD, and ASD+DCD. • Multifactorial provider and patient centered differences → unique pathways for patients seeking care. Diagnostic Pathways Key Questions

• Diagnostic path: • How does the classification of the first responsible healthcare provider influence the diagnosis? • How long do families wait to see a specialist? • What is the prevalence of ASD+DCD and which is diagnosed first? • What presenting symptoms are being reported? Methods

• Design: • A multi-site retrospective chart review. • Population: • Pediatric patients diagnosed with ASD, DCD, and ASD+DCD in the Cook Children’s Medical Center (CCMC) network, the University of North Texas Health Science Center, and the Child Study Center (CSC) in Fort Worth, Texas. • • Inclusion criteria: • Children ages 0-21 years at the time of first chart entry. • Documented medical or educational diagnosis of Autistic disorder, Autism, Autism spectrum disorder, Pervasive developmental disorder, Asperger’s syndrome, Developmental coordination disorder, and/or Dyspraxia • Data collection: • Data entered into a REDCap database Methods

• Sample size: • Data collection includes charts from 1994 to 2017, including diagnoses based on the criteria from any of the following: • DSM-IV (1994-2013) • DSM-V (2013-present) • IDC-9 (1978-2015), ICD-10 (2015-present)

• Full EMR data set n=7540 Site ASD (n) DCD (n) ASD+DCD (n) CCM 5220 424 59 C CSC 1559 46 232 Total 6779 470 291 • Current study data set n=209 Site ASD (n) DCD (n) ASD+DCD (n) Total 91 51 67 Age at First Concern

24 months = 2 years

ANOVA: F(2, 79) = 2.84, p = 0.065 ASD=91; DCD=51; ASD+DCD=67 Post-Hoc Tests: Total=209 ASD = ASD+DCD (p = 1.00) DCD = ASD (p = 0.13) DCD = ASD+DCD (p = 0.07) Age at First Concern Visit

* p = 0.015 * p = 0.02

34 months = ~ 3 years

ANOVA: F(2, 92) = 7.22, p = 0.001 ASD=91; DCD=51; ASD+DCD=67 Post-Hoc Tests: Total=209 ASD = ASD+DCD (p = 0.015) DCD = ASD (p = 0.75) DCD = ASD+DCD (p = 0.02) Age at Referral Visit with Specialist

* p = 0.001 68 months = 5.5 years years of age

ANOVA: F(2, 116) = 6.73, p = 0.002 ASD=91; DCD=51; ASD+DCD=67 Post-Hoc Tests: Total=209 ASD = ASD+DCD (p = 0.94) DCD = ASD (p = 0.40) DCD = ASD+DCD (p = 0.001) Developmental Delay

ASD=91; DCD=51; ASD+DCD=67 Total=209

Findings are collapsed across all groups. Conclusion

– Parental concern and visits: • Greater variability in the DCD group for age of first concern. • DCD patients enter the diagnostic pathway nearly 3 years later than ASD and ASD+DCD groups. • ASD+DCD may manifest as greater functional impairment or symptom severity, prompting earlier concern.

– Delays in motor skill acquisition: • A portion of patients are labeled within normal limits of development, but receive a diagnosis of a developmental disorder at a later time. • Diagnostic gap in screening and/or documentation. Implications

• Problems with global impact across co-occurrences: • Missing information about the source of diagnosis. • Variability in quantity and quality of supporting information for a diagnosis. • Limited sample size due to low treated prevalence.

• Impact of understanding the diagnostic trajectory: • Better characterization of whole body symptom profile in ASD. • Increased awareness to differences in the diagnostic pathways. • Improved diagnostic efficiency of co-occurring diagnosis. • Development of more appropriate, targeted, accessible interventions. • Optimal outcomes mean earlier, more intense interventions and less pharmacologic treatment (Sanchack and Thomas, 2016, Am Fam Physician) Future Directions and Goals

• Clarify overlap vs independent presentation of motor issues. • Systematic screening for motor symptoms and coordination.

• Timely diagnosis (Bhat et al., 2014, Rev Neurosci.) • Evidence-based and cost-effective interventions (Durken et al., 2015, Autism Res.) • Smoother transitions in care (pediatric → adult services or one clinical provider → another) (Colver et al., 2018, BMC Med.) • Coordination and sharing of information between sectors (education, health, social care) (Walsh et al., 2017, J Autism Dev Disord.; Goodson et al., 2016, J Ark Med Soc.) ASD vs. ASD+DCD: A Case Study

Shannon Chang, OMS-III Case Introduction Case #1: ASD + DCD Case #2: ASD • 7 year old Caucasian female • 7 year old Hispanic boy

• First seen by CCMC Pediatrics in 2012 with • First seen by CCMC Pediatrics in 2013 with concerns of developmental delay concerns of difficulty speaking and eating

• Background: low birth weight, pre-term, • Background: uncomplicated pregnancy, adopted from Russian orphanage at 18 consistently attended well-child visits, only months speech was noticed to be delayed

• Past Medical History: ADHD, • Past Medical History: ADHD microcephalus, fetal alcohol syndrome, seizures, failure to thrive • Family + Social History: Spanish speaking household and family required translator • Family + Social History: information for visits, covered by Medicaid, older regarding biological parents unknown; brother with developmental delays and adoptive mother has advanced degree and autism works as ICU nurse Case #1: ASD+DCD Clinical Timeline

2012 2013 2014 2015 2016 2017

•Early Childhood •Pediatrics •Child Study Center •Child Study Center •Child Study Center •Child Study Center Intervention (ECI) •Again administered •ADOS again •continued going to •brought up •ADOS test showed Ages and Stages and administered - no CSC for ADHD possibility of fetal "moderate level of •First visit to Pediatrics MCHAT results available evaluation and alcohol syndrome ASD" in Ft. Worth •Referred to Child treatment for patient's •Reached ASD •Was administered Study Center for "autistic-like diagnosis Ages and Stages evaluation features” and MCHAT •No diagnosis •Child Study Center •Child Study Center •Diagnosed with – another Psych •2nd visit to Neurology ADHD Evaluation yielded DCD •Administered Autism diagnosis Diagnostic Observation •Speech, Physical, and Schedule (ADOS) Occupational Therapy through Psych •No detailed Evaluation – no information results available

4.25 years to reach final diagnosis Case #2: ASD Clinical Timeline

2011-2012 2013 2014 2015 2016 2017

•Pediatrics •Pediatrics •Pediatrics •Pediatrics •Neurology •Genetics •Attended 6 Well •First concern •Referred to •Well Child Visit •Diagnosed with Visits from 2011- regarding Occupational •Child Study Center sleep terror •Child Study Center 2012 development Therapy, Physical •Administered disorder •Diagnosed with •Administered Ages •Referred to Therapy, Speech ADOS and Social •Pediatrics ASD and Stages in late Speech Therapy Therapy, and Child Communication •Referred to Study Center •No records 2011 (ST) Questionnaire psychiatry and available •Speech Therapy •Concern for global •Diagnosed with genetics •Diagnosed with developmental ADHD, global Developmental delays and autism developmental expressive delay, and language disorder language disorder and receptive language disorder

4.5 years to reach final diagnosis Summary of Results

Case 1 (ASD+DCD) Case 2 (ASD) Sex Female Male Race Caucasian Hispanic Socioeconomic Status Middle-High Low Age of First Concern 2 years 2 years First Professional Seen Pediatrician Pediatrician Age of ASD Diagnosis 6.25 years 6.5 years Age of DCD Diagnosis 2 years N/A Age of Final Diagnosis 6.25 years 6.5 years Source of Final Diagnosis Child Study Center Child Study Center

Time Spent Between First 4.25 years 4.5 years Concern and Final Diagnosis # of Visits before Final 9 10 Diagnosis Recommended ST, OT, PT ST, OT, PT Interventions Interventions Utilized ST, OT, PT ST Discussion

• Several factors lead to delayed diagnosis and intervention

Socioeconomic Sex Status

Cultural and Clinical Language Resources Barriers

Physician's Delayed ADHD Co- Knowledge Diagnosis Diagnosis Conclusion

• Need for collaborative, caregiver-mediated and child- directed intervention in ASD children – Physicians need to listen to caregiver concerns on symptoms and treatment strategies (Guan et al.) – Consider cultural differences in caregiver behaviors and associations between caregiver behaviors and clinician adherence • Only 47% of concerns expressed per physician visit (Guan et al.) – Consider socioeconomic background and feasibility of caregiver and ASD individual’s environment Future Directions • Early intervention results in improved functional use of: – Language – Daily living skills – Positive social behavior – Other domains playing a role in quality of life

• All these skills have long-term implications for independent living, employment, fall/injury risk, etc.

• Examples of Early Intervention – Routine developmental screening at every well-child visit

– ASD-specific screening • Modified Checklist for Autism in Toddlers (M-CHAT) • Early Screening of Autistic Traits (ESAT) • The Screening Tool for Autism in Toddlers and Young Children

– Genetic counseling • Risk is increased in siblings of children with ASD Use of Autism-Related Services in DFW

Abhinaya Ganesh, OMS-III Shravan Mupparapu, MPH Haylie Miller, Ph.D. Availability of Services in DFW

• Texas ranks as the 2nd lowest state in the nation for community-based disability support services (The Case for Inclusion, 2016, United Cerebral Palsy)

– An estimated 8,000 children are living with ASD, in Tarrant County (based on census data and CDC prevalence rate)

– Only 120 BCBAs in the DFW Metroplex (BCBA/BCaBA Registry, 2019) Fig. 1. The overlap between intervention types and common symptoms in ASD. Specific Aims

• Identify patterns of ASD service utilization in the Dallas/Fort Worth area

• Measure caregiver satisfaction with availability and quality of services

• Identify whether socioeconomic factors influence treatment choice Methods • Design: Cross-sectional analysis using a survey • Participants: Caregivers of an individual with ASD or adult self-advocates with ASD in DFW • Sample Size: Data collection is still ongoing – Planned sample size = 75 caregivers and 25 self-advocates

Table 1. Demographics of current survey respondents.Variable Level Frequency % White Non-Hispanic 18 56.25% White Hispanic 9 28.12% Race/Ethnicity African-American 5 15.62% Total 32 100.00% Male 5 13.89% Sex Female 31 86.11% Total 36 100.00% Low ($10,000-49,999) 9 26.47% Household Moderate ($50,000-99,999) 17 50.00% Income High ($100,000+) 8 23.53% Total 34 100.00%

Survey Variables REDCap Survey Preliminary Results2% Finance 9% Service Navigation 26% Accepting and Understanding Diagnosis 2% Finance 44% Support • Service Navigation 8% 9% Service Navigation Symptomology – Several trends in caregiver reports26 %of the three 11% most challenging issues following diagnosis. The Accepting and Understanding Medication Management Diagnosis most commonly-reported challenging issue44 was% Support service navigation. 8% Finance 11% Symptomology 2% Medication Management 9% Service Navigation • Service Ranking 26% – When participants were asked to rank different Accepting and Understanding types of services (speech therapy, occupational Diagnosis therapy, counseling, respite care, etc.) from 1 44% Support through 8, all 8 services averaged at about a 4. 8% This shows that participants find all of the services Symptomology equally necessary. 11% Medication Management

• Satisfaction Rates Fig. 2. Caregivers reported the top 3 – Overall, 55% of participants were dissatisfied with challenges in identifying & obtaining services; available services/providers, though most were responses clustered into 6 categories satisfied with school-sponsored services. Summary of Results

• Identify why participants are not using the services they ranked as important

• Issues of access or availability in the community?

Table 2. Frequency of services used (# affirmed) Application to Real Life

• A successful treatment plan is tailored to match the child’s age and the severity of the disability. In order to make community- and state-level policy recommendations to address this issue, it is important to understand the specific landscape of met and Making changes unmet needs of individuals with ASD. to policies!

• By identifying gaps in service availability and use of services, policymakers, healthcare providers, and community advocates will be better equipped to design programs that facilitate access to appropriate and timely interventions. Take-Home Points

– ASD is a whole-body disorder, and requires multiple approaches to assessment and intervention – Culture shift needed at multiple levels to prevent ASD with a co-occurrence from being misdiagnosed – Mismatch between parents’ perceptions of intervention efficacy and use/availability How Can You Help?

– Raise awareness of non-core symptoms of ASD – Raise awareness of common co-occurring conditions – Prioritize “building block” skills (e.g., motor control) in intervention before targeting higher-order behaviors – Support families in navigating a complex landscape of services, providers, and (mis)information – Encourage families to participate in research, regardless of whether the individual with ASD has a co-occurring condition Many people to thank… • Mentors & Collaborators • Funding & Resources

– Nicoleta Bugnariu, PT, Ph.D. (UNTHSC) – NIMHD/Texas Center for Health – Priscila Caçola, Ph.D. (UT Arlington) Disparities (U54-MD006882) – Mary Hayhoe, Ph.D. (UT Austin) – (Local Impact Grant) – Matt Mosconi, Ph.D. (Univ. of Kansas) – Rita Patterson, Ph.D. (UNTHSC) – NIMH (K01-MH107774) – Joyce Mauk, M.D. (Cook Children’s) – NCATS/UT Southwestern CTSA – W. Paul Bowman, M.D. (UNTHSC) (KL2-TR001103) – UNTHSC TCHD program faculty – NSF SBE Directorate (SMA-1514495) – UT Southwestern Center for Translational Medicine/CTSA KL2 program faculty – UNTHSC Research Seed Grant • Team Members

– Autism & Developmental Disorders Research and Human Movement Performance Lab staff/students – Community partners: Autism Treatment Center, Cook Children’s Medical Center, Hope Center, Dallas Children’s Theater, Amon Carter Museum, Fort Worth Museum of Science & History, Fort Worth Library, Fort Worth ISD, Keller ISD, Hill School Most importantly, our thanks to the amazing families who give time & effort so generously to advance our understanding of ASD! Facebook: @UNTHSCautism Web: www.unthsc.edu/autism Phone: 817-735-2312 Email: [email protected]